P67R (p.Pro67Arg) variant of NOTCH2 (Q04721)
P67R (p.Pro67Arg) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P67R (p.Pro67Arg) variant details
- p.Pro67Arg
- ExAC rs781921948
- gnomAD rs781921948
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.79
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available